Canonical Allele Identifier: CA405391888

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36333127G>C (hg19) ; chr19:g.35842225G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842225G>C , CM000681.2:g.35842225G>C	GRCh38
NC_000019.9:g.36333127G>C , CM000681.1:g.36333127G>C	GRCh37
NC_000019.8:g.41024967G>C	NCBI36
NG_013356.2:g.32063C>G , LRG_693:g.32063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2562C>G MANE Select	ENSP00000368190.4:p.Asp854Glu
ENST00000353632.6:c.2562C>G	ENSP00000343634.5:p.Asp854Glu
ENST00000378910.9:c.2562C>G	ENSP00000368190.4:p.Asp854Glu
NM_004646.3:c.2562C>G , LRG_693t1:c.2562C>G	NP_004637.1:p.Asp854Glu
NM_004646.4:c.2562C>G MANE Select	NP_004637.1:p.Asp854Glu